ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)

gnomAD frequency: 0.00094  dbSNP: rs59206042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513801 SCV001721485 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490822 SCV002798503 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513801 SCV005290283 benign not provided criteria provided, single submitter not provided
PXE International RCV000499339 SCV000589252 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-02 no assertion criteria provided research

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