ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.4404-5C>A

gnomAD frequency: 0.00006  dbSNP: rs58190361
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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 RCV002105943 SCV002408729 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494260 SCV002795685 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-01-11 criteria provided, single submitter clinical testing

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