ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1692C>G (p.Ala564=)

gnomAD frequency: 0.00001  dbSNP: rs760078372
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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 RCV000924752 SCV001070273 likely benign not provided 2023-06-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273121 SCV001455722 uncertain significance Pontocerebellar hypoplasia type 6 2020-04-16 no assertion criteria provided clinical testing

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