ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2835C>T (p.Pro945=)

gnomAD frequency: 0.08929  dbSNP: rs2856585
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517252 SCV001725724 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517252 SCV001836838 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253477 SCV002524683 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499262 SCV002524694 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253476 SCV002524705 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517252 SCV005290275 benign not provided criteria provided, single submitter not provided
PXE International RCV000499262 SCV000589028 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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