ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, Spectrum Health RCV003233059 SCV003930322 likely pathogenic Alkuraya-Kucinskas syndrome 2023-06-09 no assertion criteria provided clinical testing Seen in trans with a likely pathogenic variant in a patient whose clinical features match with those associated with the syndrome.

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