ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=)

gnomAD frequency: 0.00009  dbSNP: rs372041663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885498 SCV001028942 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495361 SCV002795051 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-10-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000885498 SCV001923071 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000885498 SCV001973108 likely benign not provided no assertion criteria provided clinical testing

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