ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1353C>T (p.Ser451=)

gnomAD frequency: 0.00086  dbSNP: rs57546826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521580 SCV001730944 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501838 SCV002808447 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001521580 SCV005330321 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ABCC6: BP4, BP7

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