ClinVar Miner

Submissions for variant NM_016070.4(MRPS23):c.426C>T (p.His142=)

gnomAD frequency: 0.00505  dbSNP: rs117066436
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959419 SCV001106327 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000959419 SCV002585659 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing MRPS23: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000959419 SCV005250579 benign not provided criteria provided, single submitter not provided

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