ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.90A>G (p.Thr30=)

dbSNP: rs139678787
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) RCV000306170 SCV000341330 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000306170 SCV001051116 benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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