ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.244+19C>T

gnomAD frequency: 0.13406  dbSNP: rs35137494
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079032 SCV000110901 benign not specified 2017-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079032 SCV000304611 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000079032 SCV001362794 benign not specified 2019-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518290 SCV001726958 benign Mucopolysaccharidosis, MPS-IV-A 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675551 SCV001945804 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518290 SCV002045073 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675551 SCV005252620 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675551 SCV000801242 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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