ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.208+18G>A

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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 RCV003845013 SCV004650621 likely benign Aicardi-Goutieres syndrome 5 2023-04-29 criteria provided, single submitter clinical testing

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