ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=)

gnomAD frequency: 0.00001  dbSNP: rs746045818
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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 RCV002149908 SCV002411132 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500091 SCV002804728 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-11-16 criteria provided, single submitter clinical testing

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