ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.168C>T (p.Val56=)

gnomAD frequency: 0.00011  dbSNP: rs145773486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994120 SCV001147445 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563831 SCV001786867 uncertain significance Gaucher disease type I 2021-07-14 criteria provided, single submitter clinical testing

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