ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.645G>A (p.Thr215=)

gnomAD frequency: 0.04543  dbSNP: rs72664282
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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 RCV000954750 SCV001101406 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000954750 SCV001841849 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253461 SCV002524244 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499076 SCV002524245 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253460 SCV002524246 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954750 SCV005290319 benign not provided criteria provided, single submitter not provided
PXE International RCV000499076 SCV000588929 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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