ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4323dup (p.Asn1442fs)

dbSNP: rs2141088947
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Total submissions: 2
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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 RCV002252981 SCV002523018 likely pathogenic See cases 2022-02-08 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV005008490 SCV005642687 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-04 criteria provided, single submitter clinical testing

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