ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=)

gnomAD frequency: 0.00001  dbSNP: rs774835190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244876 SCV000316333 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001404962 SCV001606871 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-10-25 criteria provided, single submitter clinical testing

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