ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.930C>T (p.Gly310=)

gnomAD frequency: 0.00002  dbSNP: rs767751622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282325 SCV000339037 uncertain significance not provided 2016-01-29 criteria provided, single submitter clinical testing
Invitae RCV002059187 SCV002428307 likely benign Metachromatic leukodystrophy 2024-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000282325 SCV004155285 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ARSA: BP4, BP7

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