ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.165T>G (p.Ala55=)

gnomAD frequency: 0.98177  dbSNP: rs4270331
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173538 SCV000224660 benign not specified 2014-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517690 SCV001726246 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543324 SCV001761873 benign Retinitis pigmentosa 28 2021-07-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888616 SCV004705398 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001517690 SCV005244282 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000173538 SCV005422344 benign not specified 2024-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001543324 SCV002079066 benign Retinitis pigmentosa 28 2019-11-16 no assertion criteria provided clinical testing

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