ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1896C>A (p.His632Gln)

gnomAD frequency: 0.43467  dbSNP: rs8058694
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499054 SCV000588978 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001520634 SCV001729787 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520634 SCV001757153 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549191 SCV001769293 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499054 SCV001769294 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549192 SCV001769295 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520634 SCV005290295 benign not provided criteria provided, single submitter not provided

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