ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.1284G>A (p.Pro428=)

gnomAD frequency: 0.00031  dbSNP: rs761114067
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516648 SCV001724958 benign Marshall-Smith syndrome; Malan overgrowth syndrome 2024-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717793 SCV005314781 benign not provided criteria provided, single submitter not provided

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