ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.885A>G (p.Gly295=)

gnomAD frequency: 0.00001  dbSNP: rs769636930
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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 RCV001405931 SCV001607875 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831438 SCV002079902 likely benign Pontocerebellar hypoplasia type 6 2020-10-09 no assertion criteria provided clinical testing

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