ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.444C>T (p.Thr148=)

gnomAD frequency: 0.00004  dbSNP: rs201596004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000940513 SCV001086377 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273018 SCV001455544 likely benign Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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