ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)

dbSNP: rs2122235362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244221 SCV002512604 likely pathogenic Bardet-Biedl syndrome 6 2021-08-17 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate
Fulgent Genetics, Fulgent Genetics RCV002502052 SCV002812743 pathogenic McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2022-02-15 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003221313 SCV003915719 pathogenic McKusick-Kaufman syndrome 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV002244221 SCV000025822 pathogenic Bardet-Biedl syndrome 6 2000-09-01 no assertion criteria provided literature only

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