ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)

gnomAD frequency: 0.00089  dbSNP: rs139997243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726050 SCV000341510 uncertain significance not provided 2016-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000726050 SCV000530856 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26058580)
Invitae RCV001082926 SCV001000695 likely benign Joubert syndrome 8 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726050 SCV004150521 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ARL13B: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003940043 SCV004747311 likely benign ARL13B-related condition 2022-05-09 criteria provided, single submitter 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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