ClinVar Miner

Submissions for variant NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)

gnomAD frequency: 0.00004  dbSNP: rs773642745
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820908 SCV005442114 uncertain significance Multiple epiphyseal dysplasia type 5 2024-12-19 criteria provided, single submitter clinical testing
GeneReviews RCV002210950 SCV002496189 not provided Multiple epiphyseal dysplasia no assertion provided literature only

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