ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) (rs200491758)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727438 SCV000535897 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000727438 SCV000708540 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV001080209 SCV000756163 benign Alstrom syndrome 2020-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080209 SCV001453453 likely benign Alstrom syndrome 2020-01-01 no assertion criteria provided clinical testing

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