ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=)

gnomAD frequency: 0.00001  dbSNP: rs61294695
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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 RCV002175324 SCV002350119 likely benign not provided 2023-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507883 SCV002813717 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-04-30 criteria provided, single submitter clinical testing

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