ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1895+5_1895+8del (rs386834023)

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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)	RCV000050007	SCV000082416	probable-pathogenic	Muscle eye brain disease		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.

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