ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=)

gnomAD frequency: 0.00001  dbSNP: rs532450170
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862544 SCV001003062 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413676 SCV004139380 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing RPGRIP1L: BP4, BP7
Natera, Inc. RCV001271278 SCV001452351 benign Familial aplasia of the vermis 2020-09-16 no assertion criteria provided clinical testing

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