ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.955A>G (p.Ile319Val)

gnomAD frequency: 0.00744  dbSNP: rs72657699
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000952745 SCV000531405 benign not provided 2019-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12384774, 16086317, 11536079)
PXE International RCV000499138 SCV000588941 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000952745 SCV001099267 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253446 SCV002524237 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499138 SCV002524238 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253445 SCV002524240 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000952745 SCV005290318 benign not provided criteria provided, single submitter not provided

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