ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)

gnomAD frequency: 0.00144  dbSNP: rs149118721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593408 SCV000707574 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001704694 SCV000729118 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Invitae RCV000908085 SCV001052825 benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-19 criteria provided, single submitter clinical testing

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