ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu)

gnomAD frequency: 0.00005  dbSNP: rs190327832
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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 RCV001365797 SCV001562079 uncertain significance Aicardi-Goutieres syndrome 2 2021-09-01 criteria provided, single submitter clinical testing

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