ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.179C>T (p.Ala60Val)

gnomAD frequency: 0.00002  dbSNP: rs759110815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666126 SCV000790370 uncertain significance Galactosylceramide beta-galactosidase deficiency 2017-03-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480753 SCV004223956 likely pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing PM2, PM5, PS3_moderate

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