ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002696137 SCV002993428 likely benign Aicardi-Goutieres syndrome 5 2022-07-02 criteria provided, single submitter clinical testing

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