ClinVar Miner

Submissions for variant NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)

gnomAD frequency: 0.00309  dbSNP: rs117510230
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585190 SCV000251753 likely benign not provided 2021-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585190 SCV000692689 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing DNAJC9-AS1: BS2; MRPS16: BP4, BS2
Invitae RCV000585190 SCV001031495 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917796 SCV004730611 likely benign MRPS16-related condition 2019-11-11 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000585190 SCV000802909 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing

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