ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=)

dbSNP: rs2135654441
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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 RCV001447754 SCV001650827 likely benign Aicardi-Goutieres syndrome 3 2020-10-21 criteria provided, single submitter clinical testing

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