ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.228G>A (p.Pro76=)

gnomAD frequency: 0.00004  dbSNP: rs776173729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975467 SCV001123352 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832222 SCV002079063 likely benign Retinitis pigmentosa 28 2020-12-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003943249 SCV004763889 likely benign FAM161A-related disorder 2020-03-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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