ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1512-6T>C

gnomAD frequency: 0.00022  dbSNP: rs185924037
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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 RCV000873516 SCV001015519 likely benign not provided 2024-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539170 SCV003550809 uncertain significance Inborn genetic diseases 2022-02-07 criteria provided, single submitter clinical testing The c.1512-6T>C intronic alteration consists of a T to C substitution 6 nucleotides before coding exon 18 in the RARS2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830917 SCV002079893 likely benign Pontocerebellar hypoplasia type 6 2020-09-15 no assertion criteria provided clinical testing

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