ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1233T>C (p.Asn411=)

gnomAD frequency: 0.31672  dbSNP: rs9930886
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000132638 SCV001729791 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000132638 SCV001868173 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253236 SCV002524231 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253234 SCV002524232 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253235 SCV002524233 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498650 SCV002810012 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-04-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000132638 SCV005290314 benign not provided criteria provided, single submitter not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132638 SCV000172589 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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