ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.960G>C (p.Lys320Asn) (rs199475615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000089174 SCV000329865 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing The K320N variant has previously been reported in association with mild PKU and hyperphenylalaninemia and is classified as a BH4 responsive variant (Lücke et al., 2003; Steinfeld et al., 2004; Blau et al., 2004).
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089174 SCV000119789 not provided not provided no assertion provided not provided
Counsyl RCV000666332 SCV000790605 likely pathogenic Phenylketonuria 2017-10-09 no assertion criteria provided clinical testing

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