ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.890G>A (p.Arg297His)

gnomAD frequency: 0.00010  dbSNP: rs199729978
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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 RCV000929950 SCV001075591 likely benign not provided 2018-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021279 SCV005645524 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-04-05 criteria provided, single submitter clinical testing

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