ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.346-6G>A

gnomAD frequency: 0.03265  dbSNP: rs55778939
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574017 SCV001838952 benign not provided 2018-12-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24008425, 28655553, 27884173, 16835894, 16086317, 11702217)
CeGaT Center for Human Genetics Tuebingen RCV001574017 SCV002563319 benign not provided 2022-07-01 criteria provided, single submitter clinical testing ABCC6: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001574017 SCV005290322 benign not provided criteria provided, single submitter not provided
PXE International RCV000499235 SCV000589022 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research
Reproductive Health Research and Development, BGI Genomics RCV000499235 SCV001142461 likely benign Autosomal recessive inherited pseudoxanthoma elasticum 2020-01-06 no assertion criteria provided curation NG_007558.2(NM_001171.5):c.346-6G>A in the ABCC6 gene has an allele frequency of 0.05 in European (non-Finnish) subpopulation in the gnomAD database. One family with generalized arterial calcification of infancy had compound heterozygous mutations c.346-6G>A and p.R1141 in intron 3 and exon 24 of ABCC6 (PMID24008425). Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BP4, PM3, PP4.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001574017 SCV001800705 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700195 SCV001918231 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001574017 SCV001929027 likely benign not provided no assertion criteria provided clinical testing

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