ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) (rs146398746)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713449 SCV000844057 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592989 SCV000705579 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000592989 SCV000730059 likely benign not specified 2017-11-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000198273 SCV000383957 uncertain significance Troyer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000198273 SCV000255014 likely benign Troyer syndrome 2016-11-24 criteria provided, single submitter clinical testing

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