ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2561dup (p.Asn854fs)

dbSNP: rs386834197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050191 SCV000082601 probable-pathogenic Meckel syndrome, type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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