ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=)

dbSNP: rs367878305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970522 SCV001118102 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479133 SCV002794638 likely benign X-linked intellectual disability-short stature-overweight syndrome 2021-10-08 criteria provided, single submitter clinical testing

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