ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)

gnomAD frequency: 0.00006  dbSNP: rs139841806
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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 RCV001473791 SCV001677951 likely benign Aicardi-Goutieres syndrome 5 2023-12-07 criteria provided, single submitter clinical testing

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