ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser)

gnomAD frequency: 0.00027  dbSNP: rs59002125
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584977 SCV000692843 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ABCC6: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000584977 SCV001040966 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496920 SCV002796629 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-08-30 criteria provided, single submitter clinical testing
PXE International RCV000499369 SCV000588983 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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