ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=)

gnomAD frequency: 0.00001  dbSNP: rs752951179
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489201 SCV001693738 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280361 SCV001467537 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing

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