ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.190C>A (p.Arg64=)

gnomAD frequency: 0.00001  dbSNP: rs760270515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414867 SCV001617011 likely benign Aicardi-Goutieres syndrome 3 2024-10-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706122 SCV005213607 likely benign not provided criteria provided, single submitter not provided

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