ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1512-4T>C

gnomAD frequency: 0.00005  dbSNP: rs542159390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917851 SCV001063144 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000917851 SCV005890692 uncertain significance not provided 2025-01-01 criteria provided, single submitter clinical testing RARS2: PM2, BP4
Natera, Inc. RCV001273124 SCV001455725 uncertain significance Pontocerebellar hypoplasia type 6 2020-02-13 no assertion criteria provided clinical testing

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