ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr)

gnomAD frequency: 0.00036  dbSNP: rs145905162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889428 SCV001033108 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505266 SCV002801221 likely benign X-linked intellectual disability-short stature-overweight syndrome 2022-05-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000889428 SCV005278024 benign not provided criteria provided, single submitter not provided

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