ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys)

gnomAD frequency: 0.00089  dbSNP: rs57794451
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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 RCV001510973 SCV001718145 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496932 SCV002806026 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 RCV001510973 SCV005290289 benign not provided criteria provided, single submitter not provided
PXE International RCV000499360 SCV000589292 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-04 no assertion criteria provided research

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