ClinVar Miner

Submissions for variant NM_000253.3(MTTP):c.2673C>T (p.Ser891=) (rs115222767)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487586 SCV000575414 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734434 SCV000862576 likely benign not specified 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV000487586 SCV001045153 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275670 SCV001460973 benign Abetalipoproteinaemia 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000487586 SCV001920008 likely benign not provided no assertion criteria provided clinical testing

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