ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.720G>A (p.Glu240=)

gnomAD frequency: 0.00007  dbSNP: rs750749446
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000982251 SCV001130265 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274725 SCV001459106 likely benign Retinitis pigmentosa 28 2020-06-13 no assertion criteria provided clinical testing

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