ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=)

gnomAD frequency: 0.00063  dbSNP: rs370111987
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360494 SCV000336923 uncertain significance not provided 2015-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000360494 SCV002403228 benign not provided 2023-11-04 criteria provided, single submitter clinical testing

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