ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) (rs546745992)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867234 SCV001008437 likely benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000867234 SCV001463716 likely benign Alstrom syndrome 2020-04-23 no assertion criteria provided clinical testing

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