ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.2393dup (p.Asn798fs)

dbSNP: rs2153039995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001544500 SCV001762521 pathogenic Intellectual disability 2021-08-02 criteria provided, single submitter clinical testing de novo frameshift variant.

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