ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=)

gnomAD frequency: 0.00510  dbSNP: rs60975032
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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 RCV000955210 SCV001101903 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000955210 SCV001859063 likely benign not provided 2018-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955210 SCV002063497 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ABCC6: BP4, BP7, BS2
Genome-Nilou Lab RCV002253721 SCV002524516 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253719 SCV002524527 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253720 SCV002524538 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000955210 SCV005213407 likely benign not provided criteria provided, single submitter not provided

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