ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3411C>G (p.Val1137=)

gnomAD frequency: 0.00001  dbSNP: rs772396564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002084276 SCV002429243 likely benign not provided 2022-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500111 SCV002809657 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-04-21 criteria provided, single submitter clinical testing

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