ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn)

gnomAD frequency: 0.00003  dbSNP: rs200547165
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877366 SCV001020095 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000877366 SCV005093665 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280524 SCV001467708 benign Pontocerebellar hypoplasia type 6 2020-09-01 no assertion criteria provided clinical testing

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