ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=)

gnomAD frequency: 0.00004  dbSNP: rs149466423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332347 SCV000341794 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000332347 SCV002942907 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing

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