ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00018  dbSNP: rs371542506
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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 RCV000975542 SCV001123428 likely benign not provided 2024-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275000 SCV001459659 likely benign Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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