ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) (rs367772965)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001706684 SCV000716476 likely benign not provided 2020-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000666692 SCV000791031 likely benign Alstrom syndrome 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000666692 SCV001011763 likely benign Alstrom syndrome 2020-11-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610019 SCV001363023 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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