ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.621+24T>C

gnomAD frequency: 0.11420  dbSNP: rs45568734
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000242507 SCV000302725 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533503 SCV001750177 benign Galactosylceramide beta-galactosidase deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000675263 SCV001833100 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675263 SCV000800912 benign not provided 2015-10-26 no assertion criteria provided clinical testing

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