ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3222G>A (p.Pro1074=)

gnomAD frequency: 0.00001  dbSNP: rs748567167
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907942 SCV001052674 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907942 SCV004165849 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing NEXMIF: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000907942 SCV001929412 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000907942 SCV001967219 likely benign not provided no assertion criteria provided clinical testing

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