ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) (rs149118721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593408 SCV000707574 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000593408 SCV000729118 likely benign not specified 2017-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000908085 SCV001052825 benign Joubert syndrome 20; Meckel syndrome, type 11 2020-11-21 criteria provided, single submitter clinical testing

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