ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2439+17C>T

gnomAD frequency: 0.00029  dbSNP: rs375852558
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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 RCV002160924 SCV002460956 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486974 SCV002798845 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2021-07-22 criteria provided, single submitter clinical testing

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